Materiały źródłowe

• #1 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is the most common inherited monogenic cardiac disorder, affecting 0.2-0.5% of the population. In the United States, 750,000 people are estimated to have HCM; however, only approximately 100,000 people have been diagnosed, signifying a large gap in the recognition and understanding of this disease. As diagnostic and therapeutic paradigms for HCM continue to evolve, cardiovascular clinicians will need to become familiar with the diagnosis of this condition. […] The diagnosis of HCM is confirmed with the presence of a left ventricular wall thickness of 15 mm that is otherwise unexplained by abnormal loading conditions (e.g., hypertension, valvular, congenital disease) or infiltrative cardiomyopathies. Unexplained left ventricular wall thickness of 13 mm is sufficient for diagnosis in relatives of individuals with HCM or those who are genotype positive.

• #1 Hypertrophic Cardiomyopathy: a Review | USC Journal

  https://www.uscjournal.com/articles/hypertrophic-cardiomyopathy-form-heart-failure-preserved-ejection-fraction-diagnosis-drugs?language_content_entity=en

  Hypertrophic cardiomyopathy (HCM) is a complex and heterogeneous cardiac disorder characterized by cardiac hypertrophy disproportionate to loading stimuli (e.g. hypertension or aortic stenosis). Diagnosing HCM requires a thorough examination of clinical symptoms, with echocardiography as the key initial imaging tool. Multimodality imaging further supports diagnosis, helps assess left ventricular outflow obstruction, and aids in risk stratification for sudden cardiac death. […] Transthoracic echocardiography (TTE) is the initial imaging modality of choice for the diagnosis of HCM. An LV wall thickness of 15 mm in the absence of other etiologies is diagnostic for HCM; however, alternative etiologies for LV hypertrophy must be investigated. An end-diastolic wall thickness of 13 mm can be diagnostic if there is a family history of HCM or a known disease-causing genetic mutation.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnostic-Tests-for-Hypertrophic-Cardiomyopathy.aspx

  Hypertrophic cardiomyopathy is a genetic heart condition where the heart muscles become thickened and stiff, making it difficult for the heart to pump blood around the body effectively. […] Hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern, meaning each child born to a parent with the condition has a 50% chance of inheriting it. […] For a minority, however, significant problems may develop including angina, lightheadedness, shortness of breath and arrhythmias that are life threatening, putting a person at risk of sudden cardiac arrest. […] Hypertrophic cardiomyopathy is the most common cause of sudden death in young people. […] Since hypertrophic cardiomyopathy is inherited, people who have a first-degree relative with the condition are usually offered genetic screening to identify whether they have inherited a mutation and are at risk of the disease.

• #1 Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

  https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2022/01/24/20/39/Diagnosis-and-Evaluation-of-HCM

  Diagnosis and Evaluation of Hypertrophic Cardiomyopathy […] The following are key points to remember from this state-of-the-art review on the diagnosis and evaluation of hypertrophic cardiomyopathy (HCM): HCM has a prevalence of 1:2001:500. However, only a minority are clinically diagnosed. It is a treatable disease that can be associated with normal longevity. […] Initial assessment of a patient with HCM should include asking about symptoms of syncope, heart failure, chest pain, palpitations, and family history of HCM and sudden cardiac death (SCD). Initial evaluation should also ideally include an electrocardiogram (ECG), echocardiogram, ambulatory ECG monitoring, cardiac magnetic resonance imaging (MRI), and genetic testing. It may also include exercise echocardiography especially if symptoms are mild or absent to provoke an outflow gradient. […] Diagnosis of HCM relies on echocardiogram and cardiac MRI showing hypertrophied left ventricle (LV) without dilatation in the absence of other metabolic or systemic disease causing hypertrophy such as hypertension or valvular disease. In adults, diagnosis of HCM is based on a maximum LV thickness of 15 mm at any site. In young children, HCM diagnosis relies on LV thickness of 13 mm. […] Cardiac MRI provides complementary information with an echocardiogram but can be of advantage when echocardiographic pictures are suboptimal. In addition, it provides more precise estimates of LV thickness, assessment of LV segments that may not be ideally visible on an echo such as apex, and identifies scar burden helping with risk stratification for SCD. The expert panel strongly recommends cardiac MRI with contrast as a component of HCM evaluation. […] Genetic testing for HCM is helpful for screening of family members and in identifying HCM phenocopies (Fabrys, amyloidosis, or Danon), but is not a prognostic tool. Approximately 30% of patients with HCM have evidence of a genetic etiology with a pathogenic disease-causing mutation. All HCM patients should have genetic counseling relevant to the disease, but genetic testing should not be performed in families unless a pathogenic mutation has been identified. […] For clinical screening of first-degree family members of patients with HCM, diagnostic imaging usually begins at 12 years of age continuing annually until age 18-21 years. Screening can be extended to every 5 years in adulthood. Imaging should be obtained if the ECG is abnormal.

• #1 Diagnosis and Management of Hypertrophic Cardiomyopathy: Updated Guidelines From the ACC/AHA | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0200/p207.html

  HCM is evaluated and monitored with regular ECG, echocardiography, and prolonged cardiac monitoring. […] ECG results are abnormal in up to 95% of patients with HCM. […] Evaluation is aimed at detecting the abnormalities associated with HCM including dynamic left ventricular outflow tract obstruction (LVOTO), mitral regurgitation, diastolic dysfunction, myocardial ischemia, arrhythmias, and autonomic dysfunction. […] Imaging with echocardiography or cardiovascular magnetic resonance imaging is the key to diagnosing HCM. […] In adults, HCM is diagnosed when maximal left ventricular end-diastolic wall thickness exceeds 15 mm at any point. […] When patients have a known associated gene variant or first-degree family member with HCM, wall thickness of 13 mm is diagnostic. […] Left ventricular wall thickness greater than two standard deviations above the mean for age is used in children to account for growth. […] HCM can also present with symptoms associated with exertion, including chest pain, dyspnea, palpitations, or syncope. […] HCM is often incidentally detected after finding a heart murmur or abnormal results on ECG.

• #1 Frontiers | Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2021.632293/full

  Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. […] Pediatric HCM is a large heterogeneous group of disorders. […] The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. […] Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. […] According to the 2020 American Heart Association/American College of Cardiology (AHA/ACC) guidelines, diagnosis of sarcomeric HCM in children requires an LV wall thickness more than 2 standard deviations from the predicted mean in children with a positive family history or a positive genetic test, and more than 2.5 in those without; however, specific z score thresholds have not been independently standardized.

• #1 Diagnosis of Hypertrophic Cardiomyopathy: What Every Cardiologist Needs to Know

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/02/25/06/34/Diagnosis-of-Hypertrophic-Cardiomyopathy

  Cardiac magnetic resonance imaging (MRI) provides superior morphologic and tissue characterization and volumetric assessment compared with echocardiography. Cardiac MRI is recommended in: 1) patients for whom echocardiography is inconclusive for making the diagnosis of HCM; and 2) patients with known HCM for whom additional information regarding magnitude and distribution of hypertrophy or anatomy of the mitral valve apparatus would be helpful in decision making regarding septal reduction therapy. […] Patients with HCM have a wide range of presentation, from asymptomatic with a suggestive family history, murmur, abnormal ECG, or echocardiogram to heart failure symptoms from outflow tract obstruction or restrictive physiology to sudden cardiac death. Echocardiography is the key to diagnosis and MRI may play a future role in sudden death risk stratification.

• #1 Hypertrophic cardiomyopathy – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/409

  Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy and the most frequent cause of sudden cardiac death in young people. […] Family history may be present. Echocardiography should be used to screen first-degree family members. […] Many patients will have no symptoms at the time of diagnosis and will be diagnosed following routine examination or family screening of an affected family member. […] Key diagnostic factors include family history of HCM, history of pre-syncope or syncope, systolic ejection murmur, left ventricular lift (heave), double apical impulse or double carotid pulsation, and family history of sudden death. […] 1st investigations to order include ECG, creatine kinase (CK), liver function tests, renal function tests, N-terminal pro-brain natriuretic peptide (NT-proBNP), troponin, urinalysis, CXR, and transthoracic echocardiography with Doppler.

• #1 Hypertrophic Cardiomyopathy (HCM) | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is often inherited and is a common form of genetic heart disease. It can happen at any age, but most receive a diagnosis in middle age. […] HCM is diagnosed based on your medical history, family history, a physical exam and diagnostic test results. […] Knowing your medical history and any signs and symptoms you may have is an important first step. […] Your health care professional will listen to your heart and lungs with a stethoscope. If they hear a swishing or whooshing sound called a murmur, that could mean there is problem with blood flow through the heart which may suggest HCM. […] Diagnosis is typically done by echocardiogram. It checks the function and thickness of the heart muscle and how the blood flows through the heart. […] Confirming diagnosis or preparing for surgery may also involve one or more medical procedures during cardiac catheterization.

• #1 Hypertrophic Cardiomyopathy: Causes, Symptoms & Treatments

  https://my.clevelandclinic.org/health/diseases/17116-hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy (HCM) is a complex type of heart disease that affects your heart muscle. […] The diagnosis of HCM is based on: Medical history. Your healthcare provider will ask you questions about your symptoms and family history. Physical exam. Your provider will listen to your heart and lungs. People with hypertrophic obstructive cardiomyopathy (HOCM) may have a heart murmur. Tests. An echocardiogram is the most common test used to diagnose hypertrophic cardiomyopathy, as this test will usually show the thickening of your heart walls. […] Hypertrophic cardiomyopathy (HCM) is a medical condition that may be passed on from generation to generation. Its important for you or your family members to have screening if you have a parent, sibling or child (first-degree relative) with the condition.

• #1 Diagnosing Hypertrophic Cardiomyopathy | NYU Langone Health

  https://nyulangone.org/conditions/hypertrophic-cardiomyopathy/diagnosis

  Hypertrophic cardiomyopathy (HCM) means thick heart muscle disease. […] To diagnose HCM, your NYU Langone doctor performs a physical exam to check for a heart murmur. They may also conduct one or more diagnostic tests. […] An electrocardiogram, or EKG, records the hearts electrical activitywhich triggers the heart to pump blood to the bodyto determine the rate, rhythm, and size of the heart. […] An EKG may detect an abnormal tracing that indicates thickening of the heart muscle or an irregular heartbeat which may be associated with the condition. […] A transthoracic echocardiogram, which uses sound waves to produce images of the heart, helps your doctor determine the hearts ability to pump blood and identifies irregularities in the size or shape of the heart. […] If an echocardiogram reveals thickened walls in the left ventricle but does not identify any irregularities in the mitral valve leaflets motion, your doctor may perform a stress exercise transthoracic echocardiogram.

• #1 Patient education: Hypertrophic cardiomyopathy (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hypertrophic-cardiomyopathy-beyond-the-basics

  Hypertrophic cardiomyopathy (HCM) is a disorder caused by a „spelling mistake” (mutation) in one of a number of different genes which encode for the structure of the heart. […] Testing for hypertrophic cardiomyopathy (HCM) may be performed because a person has a family history of the disease or because of a heart murmur, abnormal electrocardiogram (ECG or EKG), new symptoms, or an acute event such as syncope (loss of consciousness). An ECG is often abnormal in people with HCM, but there is no specific abnormal pattern diagnostic of HCM, and therefore an echocardiogram and/or cardiac magnetic resonance imaging (CMR) test must be done to confirm the diagnosis. […] Electrocardiography — An electrocardiogram (ECG or EKG) is a recording of the electrical activity of the heart. It can help determine if there are abnormalities in electrical conduction or thickening or damage to the heart muscle. The ECG pattern is abnormal in 90 percent of people with HCM. Of note, a small minority of people with HCM can have a normal ECG.

• #1 Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3563885/

  Hypertrophic cardiomyopathy should be considered if a patient has unexplained symptoms, a family history of premature cardiac disease, or electrocardiographic abnormalities. The diagnosis is confirmed by demonstration of increased wall thickness of 1.5 cm or more, or more than 3 standard deviations from predicted. […] Characteristic changes may include left ventricular hypertrophy with repolarization changes, T-wave inversions and abnormal Q waves. […] A genetic diagnosis can be obtained for patients with hypertrophic cardiomyopathy. With current testing, pathogenic mutations will be identified in 60%-70% of patients in 1 of 9 genes encoding the components of the cardiac sarcomere. […] The availability of genetic testing with a reasonable signal-to-noise ratio enables the identification of genotype-positive, phenotype-negative individuals.

• #1

  https://link.springer.com/article/10.1007/s10741-019-09775-4

  Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. […] Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. […] Fragmented QRS as a candidate marker for high-risk assessment in hypertrophic cardiomyopathy. […] Prognostic significance of fragmented QRS in patients with hypertrophic cardiomyopathy. […] E/e0 ratio and outcome prediction in hypertrophic cardiomyopathy: the influence of outflow tract obstruction. […] A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). […] Noninvasive detection of fibrosis applying contrast-enhanced cardiac magnetic resonance in different forms of left ventricular hypertrophy relation to remodeling.

• #1 Hypertrophic Cardiomyopathy Workup: Approach Considerations, Laboratory Studies, Two-Dimensional Echocardiography and Doppler Studies

  https://emedicine.medscape.com/article/152913-workup

  Approach to hypertrophic cardiomyopathy (HCM) starts with a comprehensive history and physical examination. Multiple tests are used not only in the evaluation of patients with possible HCM but also to determine the diagnosis of HCM, severity of left ventricular (LV) outflow tract gradient, degree of mitral regurgitation, types of arrhythmias, LV function, and prognosis. […] When considering a diagnosis of hypertrophic cardiomyopathy (HCM), all patients should undergo complete transthoracic echocardiography (TTE) with two dimensional (2D), color Doppler, spectral Doppler, and tissue Doppler. TTE aids in evaluation of the cardiac morphology, systolic and diastolic function, presence and severity of left ventricular outflow tract (LVOT) gradient, and the degree of mitral regurgitation. […] Electrocardiography (ECG) should be performed on all patients with possible hypertrophic cardiomyopathy (HCM), although ECG is not specific for HCM.

• #1 Mimics of Hypertrophic Cardiomyopathy – Diagnostic Clues to Aid Early Identification of Phenocopies | AER Journal

  https://www.aerjournal.com/articles/mimics-hypertrophic-cardiomyopathy-diagnostic-clues-aid-early-identification-phenocopies?language_content_entity=en

  Hypertrophic cardiomyopathy (HCM) is the most common genetic cause of cardiomyopathy worldwide. Significant advances and widespread availability of genetic testing have improved detection of the sarcomeric mutations that cause HCM, but have also highlighted the significance of inborn errors of metabolism (IEM) or metabolic storage disorders that can mimic HCM (’HCM phenocopies’). These conditions cannot always be reliably differentiated on the basis of imaging alone. […] It is crucial to distinguish these conditions at an early stage as their natural history, management and prognosis vary significantly from that of HCM with sarcomeric mutations. […] Echocardiography is usually diagnostic of the condition in the presence of features, such as maximal left ventricular (LV) wall thickness 15 millimetres (mm), asymmetric septal hypertrophy, apical HCM or systolic anterior motion of the mitral valve, and septal/posterior wall thickness ratio 1.3.

• #1

  https://consultqd.clevelandclinic.org/multimodality-cardiac-imaging-guides-hypertrophic-cardiomyopathy-diagnosis-and-management

  A comprehensive multi-parametric CMR examination allows for confirmation of HCM, characterization of morphology and severity of hypertrophy, assessment of LV function, exclusion of phenocopies, and information for SCD risk stratification. […] CMR markers associated with increased risk of SCD that inform recommendation for a primary prevention implantable cardiac defibrillator (ICD) include myocardial wall thickness 30 mm, LV ejection fraction 50%, an apical aneurysm and/or LGE burden 15% of the left ventricular mass. […] A crucial step in the characterization and management of HCM is to establish the presence or absence of LVOTO, which is not always seen on examinations at rest. Exercise stress echocardiography (SE) is performed to show presence of provokable LVOTO, assess hemodynamic response to exercise and objectively define a persons exercise capacity. In individuals with obstructive HCM, SE guides treatment recommendations and allows monitoring of therapeutic effects. […] Appropriate use of multimodality cardiac imaging helps to promptly and safely arrive at the correct diagnosis in order to provide the indicated treatment for those with suspected HCM.

• #1 Diagnosing Hypertrophic Cardiomyopathy | NYU Langone Health

  https://nyulangone.org/conditions/hypertrophic-cardiomyopathy/diagnosis

  A transesophageal echocardiogram provides sharper images of obstructions in the heart than a regular echocardiogram. […] An MRI uses a magnetic field and radio waves to create clear and precise images of the heart. […] In a coronary catheterization and angiogram, X-rays create cross-sectional images of the heart to help your doctor determine how well the organ is pumping blood to the rest of the body and whether the mitral valve is leaking. […] Because HCM is often inherited, your doctor may recommend genetic testing.

• #1 Cardiomyopathy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/cardiomyopathy/diagnosis-treatment/drc-20370714

  Your healthcare professional examines you and usually ask questions about your personal and family medical history. You may be asked when your symptoms happen for example, whether exercise triggers your symptoms. […] Tests to diagnose cardiomyopathy may include: […] A thin tube called a catheter is placed into the groin and threaded through blood vessels to the heart. […] This test may be done if the images from an echocardiogram aren’t enough to confirm cardiomyopathy. […] Septal ablation. This shrinks a small part of the thickened heart muscle. It’s a treatment option for hypertrophic cardiomyopathy. […] Types of surgery used to treat cardiomyopathy include: […] This is a type of open-heart surgery that can treat hypertrophic cardiomyopathy. A surgeon removes part of the thickened heart muscle wall, called a septum, that separates the two bottom heart chambers, called ventricles.

• #1 Hypertrophic cardiomyopathy & heart failure: exploring new options

  https://pace-cme.org/programs/cme/recognizing-hcm-and-hf-making-the-diagnosis/16266/

  Hypertrophic cardiomyopathy is characterized by unexplained hypertrophy with a wall thickness of at least 15 millimeters in a non-dilated left ventricle without any other loading conditions to explain this degree of hypertrophy. […] The initial evaluation of an HCM patient should include a detailed history with a focus on family history and non-invasive testing is paramount to make the diagnosis, identify the phenotype, and for risk stratification. This includes in all patients an electrocardiogram, echocardiography, CMR, and genetic testing. […] CMR and genetics have been very important in the last few years for the differential diagnosis of left ventricular hypertrophy. For sarcomeric HCM, CMR is very important to confirm the diagnosis as it has higher diagnostic accuracy to identify the LV hypertrophy and also different variants such as apical aneurysms and mid-ventricular obstruction.

• #1 Hypertrophic cardiomyopathy | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/hypertrophic-cardiomyopathy?lang=us

  Cardiac MRI, with its capabilities in evaluating cardiac morphology and function, has emerged as a technique particularly well-suited to hypertrophic cardiomyopathy diagnosis and phenotypic characterization. It is superior to echocardiography in identifying areas of segmental hypertrophy not reliably visualized or underestimated by echocardiography.

• #1 Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Current Practice and Novel Perspectives

  https://www.mdpi.com/2077-0383/12/17/5710

  The 2020 AHA/ACC guidelines recommend a comprehensive approach, starting with a detailed physical examination and thorough medical and family histories for individuals suspected of having HCM. […] Echocardiography is pivotal as the primary diagnostic and monitoring tool in HCM. […] Cardiac imaging is indeed essential to confirm the diagnosis, understand the underlying pathophysiology, and evaluate the risk of SCD. […] CMR complements echocardiography by enabling a complete and accurate assessment of all myocardial segments of the LV. […] Gadolinium-enhanced CMR plays a crucial role in precisely identifying myocardial fibrosis. […] The presence of LGE indicates replacement myocardial fibrosis and helps stratify the risk of ventricular arrhythmias and sudden cardiac death. […] The management of HCM requires a collaborative approach, where the patient and the healthcare team work together harmoniously.

• #1 :: JKMS :: Journal of Korean Medical Science

  https://jkms.org/DOIx.php?id=10.3346/jkms.2024.39.e313

  Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes. […] Current guidelines recommend genetic testing in patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause. […] Genetic testing is informative for the diagnosis of HCM, especially in patients highly suspected of having other cardiomyopathies. Sarcomere gene mutation in HCM was significantly associated with poor prognosis.

• #1 Hypertrophic Cardiomyopathy: a Review | USC Journal

  https://www.uscjournal.com/articles/hypertrophic-cardiomyopathy-form-heart-failure-preserved-ejection-fraction-diagnosis-drugs?language_content_entity=en

  Genetic testing is usually performed in the index (proband) case. If a disease-causing variant has been identified, targeted testing of first-degree relatives can be considered. […] The annual incidence of SCD in adults with HCM is 1%. The risk of SCD in a patient with HCM is determined based on their personal and family history and findings on noninvasive imaging, such as echocardiography, ambulatory electrocardiographic monitoring, and cardiac MRI. […] The 2024 AHA/ACC HCM guidelines recommend mild to moderate intensity recreational physical activity in patients with HCM. For patients with minimal or no symptoms, participation in rigorous recreational activity or competitive sports can be considered following an annual comprehensive evaluation and discussion of the potential benefits and risks with an HCM expert.

• #1 Genetic Testing for Hypertrophic Cardiomyopathy | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/understand-your-risk-for-cardiomyopathy/genetic-testing-for-hcm

  Hypertrophic cardiomyopathy is often caused by a genetic change that makes the heart muscle wall (the wall of the heart’s main pumping chamber) thicken and stiffen, reducing blood flow into and out of the heart in some cases. […] Genetic testing looks for these changes, sometimes called variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. […] Early identification for HCM is important to any treatment you may need and can also inform and guide the monitoring of your at-risk family members. […] If HCM is genetic, children of an affected parent each have a 50% chance of inheriting it. […] Early identification of HCM in a family member may lead to earlier treatment and better outcomes. […] If the specific genetic cause of your HCM is found by genetic testing, your family members can be tested for this specific change.

• #1 Genetic Testing for Hypertrophic Cardiomyopathy | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/understand-your-risk-for-cardiomyopathy/genetic-testing-for-hcm

  Genetic testing is also important if any family members have experienced these typical triggers for HCM evaluation. […] Once a genetic variant is identified within a family, all first-degree relatives should consider undergoing genetic testing and counseling for that specific variant whenever possible. […] Genetic tests are minimally invasive and conducted using a blood or saliva sample. […] Genetic testing for rare and undiagnosed conditions should be ordered by a qualified health care professional. […] Many insurance companies including commercial plans, Medicare, and Medicaid will cover genetic testing. […] Family screening can still take place even if the results of your genetic testing aren’t helpful or if you choose not to pursue genetic testing.

• #1 Hypertrophic cardiomyopathy — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/hypertrophic-cardiomyopathy/

  The main indication for genomic testing in HCM is to facilitate pre-symptomatic and/or pre-phenotypic diagnoses in family members following a diagnosis of HCM in a family member. […] As many as 50% of individuals with a clinical diagnosis of HCM will not have a genetic cause identified. […] Following a non-diagnostic genomic test in a proband, clinical screening of family members is recommended. […] Confirmation of the diagnosis of HCM, including evaluation for phenocopies and unusual forms of the condition. Genomic testing is not usually required for a diagnosis of HCM, but should be considered when unusual forms, including metabolic and syndromic forms of LVH, are suspected.

• #1 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Diagnostic-Tests-for-Hypertrophic-Cardiomyopathy.aspx

  However, genetic testing is not completely reliable, as little is understood about the underlying genetics. […] The other tests doctors most commonly use to confirm a diagnosis of hypertrophic cardiomyopathy are described in more detail below. […] This form of echocardiogram is the technique doctors generally use to diagnose hypertrophic cardiomyopathy. […] Here, the functioning of the hearts electrical signaling system is analyzed using electrodes placed on the skin that measure impulses generated in the heart. […] This will tell whether exercise triggers arrhythmia and how much exercise a patient can manage before symptoms arise. […] A cardiac MRI scan may be performed, which generates detailed heart images using magnetic fields and radio waves. […] It records the hearts electrical activity continuously over the course of one or two days. […] These images are then used to evaluate the heart and blood vessels.

• #1 Patient education: Hypertrophic cardiomyopathy (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hypertrophic-cardiomyopathy-beyond-the-basics

  Echocardiography — An echocardiogram uses ultrasound (high-frequency sound waves) to measure the muscle thickness of the left ventricle and motion of the ventricular walls, the size of the heart’s chambers, the function of the heart valves (including the mitral valve), and flow of blood within the heart. Blood flow measurements help to identify left ventricular outflow tract obstruction and determine the magnitude of extra pressure in the heart generated by this obstruction, as well as the presence and severity of mitral regurgitation. […] Exercise testing — Exercise testing determines how the heart performs during activity. The response to exercise is measured by observing symptoms, the heart rhythm, blood pressure, and heart rate as the person walks on a treadmill. […] Arrhythmia evaluation — Continuous portable (also called ambulatory) monitoring of the ECG can be helpful in identifying rhythm disorders (arrhythmias) in people with HCM.

• #1 Hypertrophic Cardiomyopathy Workup: Approach Considerations, Laboratory Studies, Two-Dimensional Echocardiography and Doppler Studies

  https://emedicine.medscape.com/article/152913-workup

  Although not required for the diagnosis of hypertrophic cardiomyopathy (HCM), a diagnostic cardiac catheterization is useful to determine the degree of outflow obstruction, cardiac hemodynamics, the diastolic characteristics of the left ventricle and LV anatomy, and, of particular importance, the coronary anatomy. […] A diagnostic electrophysiology study (EPS) uses programmed electrical stimulation to identify conduction abnormalities, sinus node dysfunction (SND), and the potential for inducible arrhythmias. In hypertrophic cardiomyopathy (HCM), syncope and presyncope are due to arrhythmia, left ventricular outflow tract (LVOT) obstruction, or inappropriate vasodilatation with adequate cardiac output. […] Exercise stress testing should be performed on patients with known or suspected hypertrophic cardiomyopathy (HCM) for risk stratification and evaluation of the left ventricular outflow tract (LVOT) gradient. It is preferred over pharmacologic stress testing.

• #1 Hypertrophic Cardiomyopathy Program | Valley Health System

  https://www.valleyhealth.com/services/hypertrophic-cardiomyopathy-program

  Cardiac computed tomography (CT) Assists in accurately detecting the anatomy of patients, helpful in patients for whom surgery or intervention may be recommended […] Exercise stress echocardiogram. […] Expertise in diagnosing and treating HCM: Many patients come to us after a long diagnostic journey that has not provided answers. Our teams expertise in cardiac imaging, combined with highly detailed diagnostic technology, allows us to make complicated diagnoses with precision.

• #1 Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Current Practice and Novel Perspectives

  https://www.mdpi.com/2077-0383/12/17/5710

  The primary objective of shared decision-making is to minimise the risk of new complications, slow disease progression, and improve the quality of life. […] The stratification of risk factors is primarily based on clinical symptoms, complaints, and radiological reports. […] According to the AHA/ACC guidelines, established risk markers of SCD in HCM patients include prior cardiac arrest or sustained ventricular tachycardia, family history of HCM-related sudden death in first-degree relatives, unexplained syncope, maximum LV wall thickness over 30 mm, LVEF < 50%, LV apical aneurysm (with or without LGE), non-sustained ventricular tachycardia on Holter monitoring, and extensive LGE (≥15% of LV mass). [...] The HCM Risk-SCD tool is recommended to assess the 5-year risk of SCD in HCM patients.

• #1 Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Current Practice and Novel Perspectives

  https://www.mdpi.com/2077-0383/12/17/5710

  The ESC risk stratification scheme shares some factors with the ACC/AHA approach, such as left ventricular wall thickness, family history of SCD, and syncope. […] In practice, the presence of extensive LGE (≥15%) and LV systolic dysfunction (LVEF < 50%) can be used in shared decision making with patients about prophylactic ICD implantation in low to intermediate risk categories.

• #1 Hypertrophic cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management methods

  https://www.oatext.com/hypertrophic-cardiomyopathy-a-review-of-literature-on-clinical-status-and-meta-analysis-of-diagnosis-and-clinical-management-methods.php

  The first population-based epidemiologic study of idiopathic HCM was in Olmsted County, Minnesota. […] The hallmark of non-obstruction HCM is the lack of LV outflow tract obstruction, indicated by LV outflow tract gradient 30 mmHg. […] The prevalence of obstructive HCM (LV outflow tract 30 mmHg) is 25 to 30% in resting conditions and up to 70% of HCM patients under exercise conditions. […] The primary diagnostic criteria is the presence of LV hypertrophy defined by LV wall thickness 15 mm measured by any imaging modality: echo, cardiac MRI, or cardiac CT in the absence of any abnormal loading condition. […] The ECS diagnostic guidelines recommend the importance of differential diagnosis to confirm HCM by excluding dilated/hypokinetic LV or LV wall thinning presenting in the late phase HCM, physiological hypertrophy due to intense exercise, co-existent pathologies and isolated basal septal wall thickening in elderly patients as discussed hereinafter.

• #1 Diagnosing Hypertrophic Cardiomyopathy

  https://www.verywellhealth.com/hypertrophic-cardiomyopathy-diagnosis-5221242

  Like echocardiography, cardiac magnetic resonance imaging (MRI or CMR) also provides pictures and information about blood flow in the heart and is used to diagnose HCM. […] An electrocardiogram (ECG or EKG) monitors and records the heart’s electrical activity. In the early stages of HCM, abnormal activity can be detected as your heart beats. HCM may be diagnosed when an ECG is performed following a heart attack or because of signs of heart problems. […] HCM is an inherited condition that can be caused by mutations in several genes related to the sarcomere, a component of the heart muscle. […] Once HCM is diagnosed, more cardiac tests need to be done to optimize the treatment of HCM or determine if an implantable cardioverter defibrillator (ICD) is appropriate. […] HCM is just one cause of a thickened heart muscle. Your provider will use the diagnostic tests to confirm whether HCM is the reason for your symptoms and to rule out the following conditions, which can also cause thickened heart muscle. […] HCM is an inherited condition causing thickening of the heart muscle. While findings during a physical examination and an electrocardiogram may be suggestive, HCM is never diagnosed by these alone. It requires heart imaging with either an echocardiogram or cardiac MRI.

• #1 Mimics of Hypertrophic Cardiomyopathy – Diagnostic Clues to Aid Early Identification of Phenocopies | AER Journal

  https://www.aerjournal.com/articles/mimics-hypertrophic-cardiomyopathy-diagnostic-clues-aid-early-identification-phenocopies?language_content_entity=en

  Despite the early onset of multisystemic manifestations of most HCM phenocopies, there is usually a significant delay in accurate diagnosis of these conditions and also a possibility that many of these are misdiagnosed as HCM due to sarcomeric mutations. […] The natural history and management of these conditions differ from those of HCM due to sarcomeric mutations, thereby underlying the need for a high index of suspicion for these disorders, use of multimodal investigations and early referral to specialist cardiomyopathy clinics with access to detailed genetic testing, screening of family members and counselling in order to enable early diagnosis and appropriate management.

• #1 Hypertrophic cardiomyopathy – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/409

  Investigations to consider include exercise ECG, Holter monitoring, nuclear imaging exercise test, cardiac magnetic resonance (CMR), cardiac computed tomography (CT), CT coronary arteriography, cardiac catheterisation, stress echocardiography, exercise echocardiography, trans-oesophageal echocardiography, endomyocardial biopsy, and genetic mutation analysis.

• #1 About Hypertrophic Cardiomyopathy (HCM) | Heart Disease, Family Health History, and Familial Hypercholesterolemia | CDC

  https://www.cdc.gov/heart-disease-family-history/about/about-hypertrophic-cardiomyopathy-hcm-and-family-health-history-of-sudden-death.html

  If someone in your family has been diagnosed with HCM, that person can have genetic testing to look for genetic changes that cause HCM. Testing in your family should start with someone who has HCM. In cases in which a young person died suddenly, genetic testing might have been done as part of the autopsy. […] If genetic testing shows that you have the genetic change for HCM, you will need to see a cardiologist to check your heart for signs of HCM. If the genetic change that causes HCM in your family is not known, parents, siblings, and children of the person with HCM will need to be checked for signs of HCM. Cardiologists can diagnose HCM using […] Echocardiogram (Echo), which is non-invasive and uses sound waves to take pictures of your heart […] Cardiac magnetic resonance imaging (MRI), which is a non-invasive way to get detailed images of your heart.

• #1 Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3563885/

  While a combination of ECG and echocardiography is more readily available and serves as adequate testing for the diagnosis of hypertrophic cardiomyopathy in most cases, cardiac MRI can provide additional information that can be quite useful. […] Treatment depends on disease expression, which can differ greatly among individuals, even within a single family. […] The natural history of hypertrophic cardiomyopathy includes those who remain asymptomatic and those who develop symptoms. […] The evidence base for the management of outflow obstruction is variable; however, in all cases, treatment should be restricted to patients who exhibit the associated symptoms. […] Recognition of obstruction-related symptoms may be made challenging by both a patient’s accommodation to limitations and a consequent lack of awareness of remediable limitations, and by the presence of latent obstruction.

• #1 Hypertrophic Cardiomyopathy: a Review | USC Journal

  https://www.uscjournal.com/articles/hypertrophic-cardiomyopathy-form-heart-failure-preserved-ejection-fraction-diagnosis-drugs?language_content_entity=en

  The management of symptomatic non-obstructive HCM with preserved EF is challenging. -blockers and non-dihydropyridine calcium channel blockers are recommended for patients with exertional angina or dyspnea. The addition of oral diuretics can be considered in cases of persistent exertional dyspnea. […] The primary goal of pharmacological treatment in HCM is to alleviate symptoms due to LVOTO. Pharmacological therapy for HCM includes -blockers, non-dihydropyridine calcium channel blockers, disopyramide, angiotensin-converting enzyme inhibitors (ACEis)/angiotensin receptor blockers (ARBs), and a newer class of drugs, CMIs. […] The 2024 AHA/ACC HCM guidelines recommend the use of CMI, disopyramide and septal reduction therapy (SRT) in patients with persistent symptoms despite first-line therapy.

• #1 Hypertrophic cardiomyopathy: diagnosis, risk stratification and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3563885/

  Anticoagulation is recommended for all patients with hypertrophic cardiomyopathy and atrial fibrillation. […] Sudden cardiac death remains the most visible outcome of hypertrophic cardiomyopathy, occurring in young, otherwise healthy individuals. […] Reasonably well-defined clinical risk factors for sudden cardiac death allow clinicians to target implantable cardioverter defibrillator therapy to those who are at the highest risk. […] The selection of patients for placement of an implantable defibrillator, the method of septal reduction therapy, and the yield and utility of genetic testing remain areas of debate. […] The identification of risk factors is the starting point for determining the utility of an implantable defibrillator as primary prophylaxis in any patient. […] Over the years, our understanding of hypertrophic cardiomyopathy has shifted. What was initially viewed as a rare disease with severe clinical consequences is now known to be a relatively common cardiomyopathy with variable and an often benign, or at least manageable, clinical course.

• #1 Diagnosis and Treatment of Obstructive Hypertrophic Cardiomyopathy

  https://www.mdpi.com/2035-8148/13/2/8

  Cardiac magnetic resonance (CMR) protocols in HCM should always include an assessment of the mitral valve, with slices positioned perpendicular to the valve plane (through-plane) along with in-plane views of the valve orifice. […] Accurate quantification of LVOTO is time-consuming, prone to error and can only be measured at rest. For these reasons, Doppler echocardiography is the modality of choice for the quantification of LVOTO. […] Treatment of LVOTO is indicated in patients with lifestyle-limiting symptoms only. Negative inotropic and chronotropic medications are indicated as the first-line therapy. If patients remain symptomatic, or remain in the presence of side effects, surgery is suggested only when performed in experienced centers. […] Septal reduction therapies include septal myectomy (SM) and alcohol septal ablation (ASA). This invasive technique should be considered in patients with an LVOTO gradient of ≥50 mm Hg, moderate-to-severe symptoms (NYHA Class III–IV) and/or recurrent exertional syncope despite having maximally tolerated medical therapy.

• #2 Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

  https://www.acc.org/Latest-in-Cardiology/ten-points-to-remember/2022/01/24/20/39/Diagnosis-and-Evaluation-of-HCM

  Diagnosis and Evaluation of Hypertrophic Cardiomyopathy […] The following are key points to remember from this state-of-the-art review on the diagnosis and evaluation of hypertrophic cardiomyopathy (HCM): HCM has a prevalence of 1:2001:500. However, only a minority are clinically diagnosed. It is a treatable disease that can be associated with normal longevity. […] Initial assessment of a patient with HCM should include asking about symptoms of syncope, heart failure, chest pain, palpitations, and family history of HCM and sudden cardiac death (SCD). Initial evaluation should also ideally include an electrocardiogram (ECG), echocardiogram, ambulatory ECG monitoring, cardiac magnetic resonance imaging (MRI), and genetic testing. It may also include exercise echocardiography especially if symptoms are mild or absent to provoke an outflow gradient. […] Diagnosis of HCM relies on echocardiogram and cardiac MRI showing hypertrophied left ventricle (LV) without dilatation in the absence of other metabolic or systemic disease causing hypertrophy such as hypertension or valvular disease. In adults, diagnosis of HCM is based on a maximum LV thickness of 15 mm at any site. In young children, HCM diagnosis relies on LV thickness of 13 mm. […] Cardiac MRI provides complementary information with an echocardiogram but can be of advantage when echocardiographic pictures are suboptimal. In addition, it provides more precise estimates of LV thickness, assessment of LV segments that may not be ideally visible on an echo such as apex, and identifies scar burden helping with risk stratification for SCD. The expert panel strongly recommends cardiac MRI with contrast as a component of HCM evaluation. […] Genetic testing for HCM is helpful for screening of family members and in identifying HCM phenocopies (Fabrys, amyloidosis, or Danon), but is not a prognostic tool. Approximately 30% of patients with HCM have evidence of a genetic etiology with a pathogenic disease-causing mutation. All HCM patients should have genetic counseling relevant to the disease, but genetic testing should not be performed in families unless a pathogenic mutation has been identified. […] For clinical screening of first-degree family members of patients with HCM, diagnostic imaging usually begins at 12 years of age continuing annually until age 18-21 years. Screening can be extended to every 5 years in adulthood. Imaging should be obtained if the ECG is abnormal.

• #2 Hypertrophic Cardiomyopathy: a Review | USC Journal

  https://www.uscjournal.com/articles/hypertrophic-cardiomyopathy-form-heart-failure-preserved-ejection-fraction-diagnosis-drugs?language_content_entity=en

  Hypertrophic cardiomyopathy (HCM) is a complex and heterogeneous cardiac disorder characterized by cardiac hypertrophy disproportionate to loading stimuli (e.g. hypertension or aortic stenosis). Diagnosing HCM requires a thorough examination of clinical symptoms, with echocardiography as the key initial imaging tool. Multimodality imaging further supports diagnosis, helps assess left ventricular outflow obstruction, and aids in risk stratification for sudden cardiac death. […] Transthoracic echocardiography (TTE) is the initial imaging modality of choice for the diagnosis of HCM. An LV wall thickness of 15 mm in the absence of other etiologies is diagnostic for HCM; however, alternative etiologies for LV hypertrophy must be investigated. An end-diastolic wall thickness of 13 mm can be diagnostic if there is a family history of HCM or a known disease-causing genetic mutation.

• #2 Hypertrophic Cardiomyopathy (HCM) | American Heart Association

  https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathy

  Hypertrophic cardiomyopathy is often inherited and is a common form of genetic heart disease. It can happen at any age, but most receive a diagnosis in middle age. […] HCM is diagnosed based on your medical history, family history, a physical exam and diagnostic test results. […] Knowing your medical history and any signs and symptoms you may have is an important first step. […] Your health care professional will listen to your heart and lungs with a stethoscope. If they hear a swishing or whooshing sound called a murmur, that could mean there is problem with blood flow through the heart which may suggest HCM. […] Diagnosis is typically done by echocardiogram. It checks the function and thickness of the heart muscle and how the blood flows through the heart. […] Confirming diagnosis or preparing for surgery may also involve one or more medical procedures during cardiac catheterization.

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